Q67* (p.Gln67Ter) variant of SGCA (Alpha-sarcoglycan)
Q67* (p.Gln67Ter) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q67* (p.Gln67Ter) variant details
- p.Gln67Ter
- gnomAD 17-50167623-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available